Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2059736G>C , CM000666.2:g.2059736G>C | GRCh38 |
| NC_000004.11:g.2061463G>C , CM000666.1:g.2061463G>C | GRCh37 |
| NC_000004.10:g.2031261G>C | NCBI36 |
| NG_027961.1:g.5225G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178557.4:c.225G>C MANE Select | NP_848652.2:p.Gly75= |
| ENST00000423729.3:c.225G>C MANE Select | ENSP00000413064.2:p.Gly75= |
| NM_178557.3:c.225G>C | NP_848652.2:p.Gly75= |
| ENST00000423729.2:c.225G>C | ENSP00000413064.2:p.Gly75= |